NM_000335.5(SCN5A):c.1152C>T (p.Ser384=) AND Progressive familial heart block, type 1A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jan 12, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001146118.12
Allele description [Variation Report for NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)]
NM_000335.5(SCN5A):c.1152C>T (p.Ser384=)
Condition(s)
- Name:
- Progressive familial heart block, type 1A (PFHB1A)
- Synonyms:
- HEART BLOCK, PROGRESSIVE FAMILIAL, TYPE I; Heart block progressive familial type 1; Cardiac conduction defect progressive; See all synonyms [MedGen]
- Identifiers:
- MONDO: MONDO:0007240; MedGen: C1879286; Orphanet: 871; OMIM: 113900
-
Gm39533 predicted gene, 39533 [Mus musculus]
Gm39533 predicted gene, 39533 [Mus musculus]Gene ID:105243719Gene
-
Gm39533 AND (alive[prop]) (1)
Gene
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Last Updated: Oct 13, 2024